UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422290_41422291delinsAA | CA2573054776 | BCKDHA | c.773_774delinsAA (p.Cys258Ter) c.707_708delinsAA (p.Cys236Ter) n.402_403delinsAA c.875_876delinsAA (p.Cys292Ter) c.686_687delinsAA (p.Cys229Ter) n.401_402delinsAA | ClinVar dbSNP |
| 19 | g.41422291C>A | CA406012922 | BCKDHA | c.774C>A (p.Cys258Ter) c.708C>A (p.Cys236Ter) n.403C>A c.876C>A (p.Cys292Ter) c.687C>A (p.Cys229Ter) n.402C>A | ClinVar dbSNP |
| 19 | g.41422291C= | CA2336459046 | BCKDHA | c.774C= (p.Cys258=) c.708C= (p.Cys236=) n.403C= c.876C= (p.Cys292=) c.687C= (p.Cys229=) n.402C= | |
| 19 | g.41422291C>G | CA406012923 | BCKDHA | c.774C>G (p.Cys258Trp) c.708C>G (p.Cys236Trp) n.403C>G c.876C>G (p.Cys292Trp) c.687C>G (p.Cys229Trp) n.402C>G | |
| 19 | g.41422291C>T | CA507690579 | BCKDHA | c.774C>T (p.Cys258=) c.708C>T (p.Cys236=) n.403C>T c.876C>T (p.Cys292=) c.687C>T (p.Cys229=) n.402C>T | |
| 19 | g.41422292C>A | CA406012926 | BCKDHA | c.775C>A (p.Pro259Thr) c.709C>A (p.Pro237Thr) n.404C>A c.877C>A (p.Pro293Thr) c.688C>A (p.Pro230Thr) n.403C>A | |
| 19 | g.41422292C>G | CA406012925 | BCKDHA | c.775C>G (p.Pro259Ala) c.709C>G (p.Pro237Ala) n.404C>G c.877C>G (p.Pro293Ala) c.688C>G (p.Pro230Ala) n.403C>G | |
| 19 | g.41422292C>T | CA406012924 | BCKDHA | c.775C>T (p.Pro259Ser) c.709C>T (p.Pro237Ser) n.404C>T c.877C>T (p.Pro293Ser) c.688C>T (p.Pro230Ser) n.403C>T | |
| 19 | g.41422293C>A | CA406012927 | BCKDHA | c.776C>A (p.Pro259His) c.710C>A (p.Pro237His) n.405C>A c.878C>A (p.Pro293His) c.689C>A (p.Pro230His) n.404C>A | |
| 19 | g.41422293C>G | CA406012928 | BCKDHA | c.776C>G (p.Pro259Arg) c.710C>G (p.Pro237Arg) n.405C>G c.878C>G (p.Pro293Arg) c.689C>G (p.Pro230Arg) n.404C>G | |
| 19 | g.41422293C>T | CA406012929 | BCKDHA | c.776C>T (p.Pro259Leu) c.710C>T (p.Pro237Leu) n.405C>T c.878C>T (p.Pro293Leu) c.689C>T (p.Pro230Leu) n.404C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422294C>A | CA507690582 | BCKDHA | c.777C>A (p.Pro259=) c.711C>A (p.Pro237=) n.406C>A c.879C>A (p.Pro293=) c.690C>A (p.Pro230=) n.405C>A | |
| 19 | g.41422294C>G | CA507690583 | BCKDHA | c.777C>G (p.Pro259=) c.711C>G (p.Pro237=) n.406C>G c.879C>G (p.Pro293=) c.690C>G (p.Pro230=) n.405C>G | |
| 19 | g.41422294C>T | CA507690585 | BCKDHA | c.777C>T (p.Pro259=) c.711C>T (p.Pro237=) n.406C>T c.879C>T (p.Pro293=) c.690C>T (p.Pro230=) n.405C>T | ClinVar |
| 19 | g.41422298_41422300del | CA2585307995 | BCKDHA | c.781_783del (p.Ile261del) c.715_717del (p.Ile239del) n.410_412del c.883_885del (p.Ile295del) c.694_696del (p.Ile232del) n.409_411del | gnomAD v4 |
| 19 | g.41422295A>C | CA406012930 | BCKDHA | c.778A>C (p.Ile260Leu) c.712A>C (p.Ile238Leu) n.407A>C c.880A>C (p.Ile294Leu) c.691A>C (p.Ile231Leu) n.406A>C | |
| 19 | g.41422295A>G | CA406012931 | BCKDHA | c.778A>G (p.Ile260Val) c.712A>G (p.Ile238Val) n.407A>G c.880A>G (p.Ile294Val) c.691A>G (p.Ile231Val) n.406A>G | |
| 19 | g.41422295A>T | CA406012932 | BCKDHA | c.778A>T (p.Ile260Phe) c.712A>T (p.Ile238Phe) n.407A>T c.880A>T (p.Ile294Phe) c.691A>T (p.Ile231Phe) n.406A>T | |
| 19 | g.41422296T>A | CA406012933 | BCKDHA | c.779T>A (p.Ile260Asn) c.713T>A (p.Ile238Asn) n.408T>A c.881T>A (p.Ile294Asn) c.692T>A (p.Ile231Asn) n.407T>A | |
| 19 | g.41422296T>C | CA406012934 | BCKDHA | c.779T>C (p.Ile260Thr) c.713T>C (p.Ile238Thr) n.408T>C c.881T>C (p.Ile294Thr) c.692T>C (p.Ile231Thr) n.407T>C | |
| 19 | g.41422296T>G | CA406012935 | BCKDHA | c.779T>G (p.Ile260Ser) c.713T>G (p.Ile238Ser) n.408T>G c.881T>G (p.Ile294Ser) c.692T>G (p.Ile231Ser) n.407T>G | |
| 19 | g.41422297C>A | CA507690591 | BCKDHA | c.780C>A (p.Ile260=) c.714C>A (p.Ile238=) n.409C>A c.882C>A (p.Ile294=) c.693C>A (p.Ile231=) n.408C>A | |
| 19 | g.41422297C= | CA2336459047 | BCKDHA | c.780C= (p.Ile260=) c.714C= (p.Ile238=) n.409C= c.882C= (p.Ile294=) c.693C= (p.Ile231=) n.408C= | |
| 19 | g.41422297C>G | CA406012936 | BCKDHA | c.780C>G (p.Ile260Met) c.714C>G (p.Ile238Met) n.409C>G c.882C>G (p.Ile294Met) c.693C>G (p.Ile231Met) n.408C>G | dbSNP |
| 19 | g.41422297C>T | CA507690589 | BCKDHA | c.780C>T (p.Ile260=) c.714C>T (p.Ile238=) n.409C>T c.882C>T (p.Ile294=) c.693C>T (p.Ile231=) n.408C>T | |
| 19 | g.41422298A= | CA2336459048 | BCKDHA | c.781A= (p.Ile261=) c.715A= (p.Ile239=) n.410A= c.883A= (p.Ile295=) c.694A= (p.Ile232=) n.409A= | |
| 19 | g.41422298A>C | CA406012937 | BCKDHA | c.781A>C (p.Ile261Leu) c.715A>C (p.Ile239Leu) n.410A>C c.883A>C (p.Ile295Leu) c.694A>C (p.Ile232Leu) n.409A>C | |
| 19 | g.41422298A>G | CA308524317 | BCKDHA | c.781A>G (p.Ile261Val) c.715A>G (p.Ile239Val) n.410A>G c.883A>G (p.Ile295Val) c.694A>G (p.Ile232Val) n.409A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422298A>T | CA406012938 | BCKDHA | c.781A>T (p.Ile261Phe) c.715A>T (p.Ile239Phe) n.410A>T c.883A>T (p.Ile295Phe) c.694A>T (p.Ile232Phe) n.409A>T | |
| 19 | g.41422298_41422301delinsATCT | CA2336459049 | BCKDHA | c.781_784delinsATCT (p.Ile261=) c.715_718delinsATCT (p.Ile239=) n.410_413delinsATCT c.883_886delinsATCT (p.Ile295=) c.694_697delinsATCT (p.Ile232=) n.409_412delinsATCT | |
| 19 | g.41422299T>A | CA406012942 | BCKDHA | c.782T>A (p.Ile261Asn) c.716T>A (p.Ile239Asn) n.411T>A c.884T>A (p.Ile295Asn) c.695T>A (p.Ile232Asn) n.410T>A | |
| 19 | g.41422299T>C | CA406012941 | BCKDHA | c.782T>C (p.Ile261Thr) c.716T>C (p.Ile239Thr) n.411T>C c.884T>C (p.Ile295Thr) c.695T>C (p.Ile232Thr) n.410T>C | |
| 19 | g.41422299T>G | CA406012940 | BCKDHA | c.782T>G (p.Ile261Ser) c.716T>G (p.Ile239Ser) n.411T>G c.884T>G (p.Ile295Ser) c.695T>G (p.Ile232Ser) n.410T>G | |
| 19 | g.41422305_41422307del | CA221215 | BCKDHA | c.788_790del (p.Phe263del) c.722_724del (p.Phe241del) n.417_419del c.890_892del (p.Phe297del) c.701_703del (p.Phe234del) n.416_418del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422300C>A | CA507690599 | BCKDHA | c.783C>A (p.Ile261=) c.717C>A (p.Ile239=) n.412C>A c.885C>A (p.Ile295=) c.696C>A (p.Ile232=) n.411C>A | dbSNP gnomAD v4 |
| 19 | g.41422300C= | CA2336459050 | BCKDHA | c.783C= (p.Ile261=) c.717C= (p.Ile239=) n.412C= c.885C= (p.Ile295=) c.696C= (p.Ile232=) n.411C= | |
| 19 | g.41422300C>G | CA406012943 | BCKDHA | c.783C>G (p.Ile261Met) c.717C>G (p.Ile239Met) n.412C>G c.885C>G (p.Ile295Met) c.696C>G (p.Ile232Met) n.411C>G | |
| 19 | g.41422300C>T | CA507690601 | BCKDHA | c.783C>T (p.Ile261=) c.717C>T (p.Ile239=) n.412C>T c.885C>T (p.Ile295=) c.696C>T (p.Ile232=) n.411C>T | dbSNP gnomAD v4 |
| 19 | g.41422301T>A | CA9461256 | BCKDHA | c.784T>A (p.Phe262Ile) c.718T>A (p.Phe240Ile) n.413T>A c.886T>A (p.Phe296Ile) c.697T>A (p.Phe233Ile) n.412T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422301T>C | CA406012944 | BCKDHA | c.784T>C (p.Phe262Leu) c.718T>C (p.Phe240Leu) n.413T>C c.886T>C (p.Phe296Leu) c.697T>C (p.Phe233Leu) n.412T>C | |
| 19 | g.41422301T>G | CA406012945 | BCKDHA | c.784T>G (p.Phe262Val) c.718T>G (p.Phe240Val) n.413T>G c.886T>G (p.Phe296Val) c.697T>G (p.Phe233Val) n.412T>G | |
| 19 | g.41422301T= | CA2336459051 | BCKDHA | c.784T= (p.Phe262=) c.718T= (p.Phe240=) n.413T= c.886T= (p.Phe296=) c.697T= (p.Phe233=) n.412T= | |
| 19 | g.41422302T>A | CA406012946 | BCKDHA | c.785T>A (p.Phe262Tyr) c.719T>A (p.Phe240Tyr) n.414T>A c.887T>A (p.Phe296Tyr) c.698T>A (p.Phe233Tyr) n.413T>A | |
| 19 | g.41422302T>C | CA406012947 | BCKDHA | c.785T>C (p.Phe262Ser) c.719T>C (p.Phe240Ser) n.414T>C c.887T>C (p.Phe296Ser) c.698T>C (p.Phe233Ser) n.413T>C | |
| 19 | g.41422302T>G | CA406012948 | BCKDHA | c.785T>G (p.Phe262Cys) c.719T>G (p.Phe240Cys) n.414T>G c.887T>G (p.Phe296Cys) c.698T>G (p.Phe233Cys) n.413T>G | |
| 19 | g.41422303C>A | CA406012949 | BCKDHA | c.786C>A (p.Phe262Leu) c.720C>A (p.Phe240Leu) n.415C>A c.888C>A (p.Phe296Leu) c.699C>A (p.Phe233Leu) n.414C>A | |
| 19 | g.41422303C>G | CA406012950 | BCKDHA | c.786C>G (p.Phe262Leu) c.720C>G (p.Phe240Leu) n.415C>G c.888C>G (p.Phe296Leu) c.699C>G (p.Phe233Leu) n.414C>G | |
| 19 | g.41422303C>T | CA507690608 | BCKDHA | c.786C>T (p.Phe262=) c.720C>T (p.Phe240=) n.415C>T c.888C>T (p.Phe296=) c.699C>T (p.Phe233=) n.414C>T | COSMIC |
| 19 | g.41422304T>A | CA406012951 | BCKDHA | c.787T>A (p.Phe263Ile) c.721T>A (p.Phe241Ile) n.416T>A c.889T>A (p.Phe297Ile) c.700T>A (p.Phe234Ile) n.415T>A | |
| 19 | g.41422304T>C | CA308524322 | BCKDHA | c.787T>C (p.Phe263Leu) c.721T>C (p.Phe241Leu) n.416T>C c.889T>C (p.Phe297Leu) c.700T>C (p.Phe234Leu) n.415T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |